Incidental Mutation 'R7136:Rrbp1'
| ID |
553047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrbp1
|
| Ensembl Gene |
ENSMUSG00000027422 |
| Gene Name |
ribosome binding protein 1 |
| Synonyms |
mRRp1.8, mRRp0, mRRp5.4, mRRp47, 1700087N07Rik, mRRp10, mRRp16.8, ES/130, p180, mRRp41, mRRp2, mRRp15b, 5730465C04Rik, mRRp15a |
| MMRRC Submission |
045220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R7136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143791600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1369
(F1369I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016072
AA Change: F1369I
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: F1369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Rib_recp_KP_reg
|
33 |
171 |
2.3e-40 |
PFAM |
|
low complexity region
|
197 |
215 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
218 |
373 |
2.94e-114 |
PROSPERO |
|
internal_repeat_1
|
219 |
406 |
7.79e-148 |
PROSPERO |
|
internal_repeat_1
|
410 |
618 |
7.79e-148 |
PROSPERO |
|
internal_repeat_2
|
449 |
692 |
2.94e-114 |
PROSPERO |
|
coiled coil region
|
757 |
1126 |
N/A |
INTRINSIC |
|
coiled coil region
|
1167 |
1321 |
N/A |
INTRINSIC |
|
coiled coil region
|
1342 |
1455 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
G |
5: 138,560,610 (GRCm39) |
S262P |
probably damaging |
Het |
| Abcc2 |
A |
G |
19: 43,825,899 (GRCm39) |
E1512G |
probably damaging |
Het |
| Abcg2 |
T |
G |
6: 58,661,325 (GRCm39) |
Y459D |
possibly damaging |
Het |
| Amy1 |
T |
C |
3: 113,357,248 (GRCm39) |
Y197C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,990,541 (GRCm39) |
I516T |
probably damaging |
Het |
| Capn12 |
T |
A |
7: 28,582,532 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
A |
18: 86,734,797 (GRCm39) |
L190Q |
probably damaging |
Het |
| Ccdc157 |
C |
T |
11: 4,098,592 (GRCm39) |
E305K |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,830 (GRCm39) |
S289P |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,239,264 (GRCm39) |
E1756K |
probably null |
Het |
| Chrd |
G |
T |
16: 20,553,272 (GRCm39) |
A183S |
possibly damaging |
Het |
| Cp |
C |
T |
3: 20,039,822 (GRCm39) |
R880* |
probably null |
Het |
| Cyp24a1 |
A |
T |
2: 170,336,063 (GRCm39) |
D191E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,020,613 (GRCm39) |
Y1252C |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,480,403 (GRCm39) |
D487G |
probably damaging |
Het |
| Fam227b |
T |
G |
2: 125,965,948 (GRCm39) |
Q159P |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,289,481 (GRCm39) |
I14T |
probably benign |
Het |
| Fbxl19 |
C |
A |
7: 127,349,217 (GRCm39) |
T129N |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,381,665 (GRCm39) |
F193L |
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,539,603 (GRCm39) |
|
probably null |
Het |
| Hgh1 |
A |
G |
15: 76,254,631 (GRCm39) |
M336V |
probably benign |
Het |
| Il12b |
T |
C |
11: 44,298,857 (GRCm39) |
L104P |
probably benign |
Het |
| Kcnh2 |
A |
T |
5: 24,537,989 (GRCm39) |
F125I |
probably benign |
Het |
| Kcnk7 |
A |
G |
19: 5,756,104 (GRCm39) |
H110R |
probably benign |
Het |
| Kdm3a |
G |
A |
6: 71,588,764 (GRCm39) |
P415L |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,830,077 (GRCm39) |
T610A |
probably benign |
Het |
| Krbox5 |
A |
G |
13: 67,991,111 (GRCm39) |
|
probably null |
Het |
| Lmbr1l |
C |
A |
15: 98,809,372 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,157,975 (GRCm39) |
M1436K |
unknown |
Het |
| Lrp1 |
C |
T |
10: 127,394,491 (GRCm39) |
C2574Y |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,859,587 (GRCm39) |
E258G |
possibly damaging |
Het |
| Mesp1 |
T |
C |
7: 79,442,906 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,934 (GRCm39) |
I108N |
probably benign |
Het |
| Nos1 |
G |
T |
5: 118,033,925 (GRCm39) |
R349L |
possibly damaging |
Het |
| Or5k3 |
C |
T |
16: 58,969,327 (GRCm39) |
T38I |
probably damaging |
Het |
| Or7c70 |
T |
C |
10: 78,683,615 (GRCm39) |
I45V |
probably benign |
Het |
| Osgin1 |
T |
A |
8: 120,168,176 (GRCm39) |
M1K |
probably null |
Het |
| Pde4dip |
C |
T |
3: 97,601,379 (GRCm39) |
S2346N |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,258 (GRCm39) |
M310V |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,769 (GRCm39) |
T323A |
probably damaging |
Het |
| Polr3a |
C |
T |
14: 24,511,883 (GRCm39) |
R891Q |
probably damaging |
Het |
| Prkar1b |
C |
A |
5: 139,094,363 (GRCm39) |
C75F |
probably benign |
Het |
| Prss58 |
C |
T |
6: 40,876,987 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,516,631 (GRCm39) |
D63E |
possibly damaging |
Het |
| Qars1 |
T |
C |
9: 108,389,971 (GRCm39) |
I350T |
probably damaging |
Het |
| Qprt |
T |
C |
7: 126,707,984 (GRCm39) |
K149R |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,873,651 (GRCm39) |
D653E |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,381,703 (GRCm39) |
M481V |
possibly damaging |
Het |
| Rdx |
C |
T |
9: 51,997,745 (GRCm39) |
T573M |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,527,508 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
C |
16: 73,753,438 (GRCm39) |
E813G |
probably damaging |
Het |
| Sh2d4b |
T |
A |
14: 40,562,209 (GRCm39) |
T319S |
probably benign |
Het |
| Slc7a15 |
G |
T |
12: 8,588,895 (GRCm39) |
N217K |
probably damaging |
Het |
| Stmn1 |
A |
G |
4: 134,198,088 (GRCm39) |
K42E |
probably damaging |
Het |
| Tbl2 |
T |
G |
5: 135,178,682 (GRCm39) |
W31G |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,669,845 (GRCm39) |
C114R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,832,254 (GRCm39) |
S711G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,666,904 (GRCm39) |
R11531G |
unknown |
Het |
| Ube2e3 |
T |
C |
2: 78,744,085 (GRCm39) |
Y105H |
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,280,059 (GRCm39) |
C753F |
probably benign |
Het |
| Vmn1r13 |
T |
C |
6: 57,187,239 (GRCm39) |
S133P |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,975 (GRCm39) |
Q474L |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,184,262 (GRCm39) |
I601T |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,802,587 (GRCm39) |
T81S |
possibly damaging |
Het |
| Wdr82 |
A |
G |
9: 106,048,532 (GRCm39) |
S39G |
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,451,080 (GRCm39) |
I108V |
probably benign |
Het |
|
| Other mutations in Rrbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Rrbp1
|
APN |
2 |
143,810,538 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01636:Rrbp1
|
APN |
2 |
143,789,815 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01923:Rrbp1
|
APN |
2 |
143,832,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02513:Rrbp1
|
APN |
2 |
143,830,350 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02548:Rrbp1
|
APN |
2 |
143,791,679 (GRCm39) |
splice site |
probably benign |
|
|
IGL02678:Rrbp1
|
APN |
2 |
143,832,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
FR4449:Rrbp1
|
UTSW |
2 |
143,809,376 (GRCm39) |
frame shift |
probably null |
|
|
PIT4378001:Rrbp1
|
UTSW |
2 |
143,816,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0127:Rrbp1
|
UTSW |
2 |
143,831,864 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0611:Rrbp1
|
UTSW |
2 |
143,830,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Rrbp1
|
UTSW |
2 |
143,795,173 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1439:Rrbp1
|
UTSW |
2 |
143,797,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1534:Rrbp1
|
UTSW |
2 |
143,830,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Rrbp1
|
UTSW |
2 |
143,831,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1920:Rrbp1
|
UTSW |
2 |
143,830,211 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1921:Rrbp1
|
UTSW |
2 |
143,830,211 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2152:Rrbp1
|
UTSW |
2 |
143,796,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2153:Rrbp1
|
UTSW |
2 |
143,796,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2319:Rrbp1
|
UTSW |
2 |
143,799,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2850:Rrbp1
|
UTSW |
2 |
143,791,269 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2864:Rrbp1
|
UTSW |
2 |
143,799,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3433:Rrbp1
|
UTSW |
2 |
143,794,200 (GRCm39) |
splice site |
probably benign |
|
|
R3707:Rrbp1
|
UTSW |
2 |
143,795,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3837:Rrbp1
|
UTSW |
2 |
143,831,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Rrbp1
|
UTSW |
2 |
143,805,030 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4074:Rrbp1
|
UTSW |
2 |
143,805,030 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4076:Rrbp1
|
UTSW |
2 |
143,805,030 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4279:Rrbp1
|
UTSW |
2 |
143,805,028 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4583:Rrbp1
|
UTSW |
2 |
143,830,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4820:Rrbp1
|
UTSW |
2 |
143,806,685 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4829:Rrbp1
|
UTSW |
2 |
143,831,607 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4836:Rrbp1
|
UTSW |
2 |
143,830,337 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5589:Rrbp1
|
UTSW |
2 |
143,831,886 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5801:Rrbp1
|
UTSW |
2 |
143,831,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Rrbp1
|
UTSW |
2 |
143,805,251 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5955:Rrbp1
|
UTSW |
2 |
143,791,597 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6102:Rrbp1
|
UTSW |
2 |
143,830,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Rrbp1
|
UTSW |
2 |
143,831,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Rrbp1
|
UTSW |
2 |
143,816,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7022:Rrbp1
|
UTSW |
2 |
143,799,722 (GRCm39) |
splice site |
probably null |
|
|
R7061:Rrbp1
|
UTSW |
2 |
143,831,087 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7291:Rrbp1
|
UTSW |
2 |
143,811,382 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7361:Rrbp1
|
UTSW |
2 |
143,809,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7816:Rrbp1
|
UTSW |
2 |
143,830,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Rrbp1
|
UTSW |
2 |
143,789,815 (GRCm39) |
unclassified |
probably benign |
|
|
R7968:Rrbp1
|
UTSW |
2 |
143,832,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Rrbp1
|
UTSW |
2 |
143,798,712 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8306:Rrbp1
|
UTSW |
2 |
143,792,416 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8439:Rrbp1
|
UTSW |
2 |
143,797,053 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8469:Rrbp1
|
UTSW |
2 |
143,831,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8485:Rrbp1
|
UTSW |
2 |
143,796,933 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8526:Rrbp1
|
UTSW |
2 |
143,816,403 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8534:Rrbp1
|
UTSW |
2 |
143,830,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Rrbp1
|
UTSW |
2 |
143,831,045 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8735:Rrbp1
|
UTSW |
2 |
143,830,920 (GRCm39) |
nonsense |
probably null |
|
|
R9258:Rrbp1
|
UTSW |
2 |
143,853,161 (GRCm39) |
start gained |
probably benign |
|
|
R9326:Rrbp1
|
UTSW |
2 |
143,806,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9419:Rrbp1
|
UTSW |
2 |
143,811,436 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9585:Rrbp1
|
UTSW |
2 |
143,799,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9660:Rrbp1
|
UTSW |
2 |
143,831,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Rrbp1
|
UTSW |
2 |
143,832,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rrbp1
|
UTSW |
2 |
143,816,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rrbp1
|
UTSW |
2 |
143,811,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGAGATAACCCACTCGCAC -3'
(R):5'- CCCCAGAAATGAGAGTGCTG -3'
Sequencing Primer
(F):5'- ACCCAGGCCTTCAGGAC -3'
(R):5'- CCCAGGGAATCCTAGAAATAGCTTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation